Sunday December 8, 2019

First Study to Test Gene-Editing Technique to Cure Inherited Form of Blindness to Start in US

People with the disease have healthy eyes but lack a gene that converts light into signals to the brain that enable sight

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gene-editing technique
FILE - A nurse practitioner prepares to start the first human gene editing treatment for Hunter syndrome, an inherited metabolic disease, at a hospital in Oakland, Calif., Nov. 13, 2017. VOA

Patients are about to be enrolled in the first study to test a gene-editing technique known as CRISPR inside the body to try to cure an inherited form of blindness. People with the disease have healthy eyes but lack a gene that converts light into signals to the brain that enable sight.

The experimental treatment aims to supply kids and adults with a healthy version of the gene they lack, using a tool that cuts or “edits” DNA in a specific spot. It’s intended as a onetime treatment that permanently alters the person’s native DNA.

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Two companies, Editas Medicine and Allergan, will test this in up to 18 people around the United States, including Massachusetts Eye and Ear in Boston, starting this fall. (VOA)

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Genetic Variations Influence Risk of Developing Cancer: Study

Study found that variations in the regions that regulate the expression of oncogenes and tumour suppressor genes affect cancer risk

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Cancer
While minor genetic changes only have a small impact on Cancer risk, the variations analysed in this study are numerous and common in the population. Pixabay

Shedding new light on why some people develop cancer while others do not, a new study has found that a person’s risk of developing cancer is affected by Genetic variations in regions of DNA that do not code for proteins, previously dismissed as “junk DNA”.

This study, published in the British Journal of Cancer, shows that inherited cancer risk is not only affected by mutations in key cancer genes, but that variations in the DNA that controls the expression of these genes can also drive the disease.

The researchers believe that understanding how non-coding DNA affects the development of this disease could one day improve genetic screening for cancer risk.

And in the future, this could lead to new prevention strategies, or help doctors diagnose the disease earlier, when it is more likely to be treated successfully.

“What we found surprised us as it had never been reported before — our results show that small genetic variations work collectively to subtly shift the activity of genes that drive cancer,” said lead researcher of the study John Quackenbush, Professor at Harvard T.H. Chan School of Public Health in the US.

Genetic
Shedding new light on why some people develop Cancer while others do not, a new study has found that a person’s risk of developing cancer is affected by genetic variations in regions of DNA that do not code for proteins, previously dismissed as “junk DNA”. Pixabay

“We hope that this approach could one day save lives by helping to identify people at risk of cancer, as well as other complex diseases,” Quackenbush said.

The researchers investigated 846 genetic changes within non-coding stretches of DNA, identified by previous studies as affecting cancer risk.

These Single Nucleotide Polymorphisms (SNPs) are particular positions in the human genome where a single letter of the genetic code varies between people.

Unlike mutations in coding DNA, such as BRCA, that are rare but significantly raise a person’s risk of developing cancer, non-coding SNPs are relatively common in the population but only slightly increase cancer risk.

The team analysed whether there was a correlation between the presence of a particular SNP and the expression of particular genes.

In total, they looked at over six million genetic variants across 13 different body tissues.

Genetic
The researchers believe that understanding how non-coding DNA affects the development of this disease could one day improve genetic screening for cancer risk. Pixabay

They found that variations in the regions that regulate the expression of oncogenes and tumour suppressor genes affect cancer risk.

The study also revealed that these cancer-risk SNPs tend to be specifically located in regions that regulate the immune system and tissue-specific processes — highlighting the importance of these cellular processes to the development of cancer.

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“While minor genetic changes only have a small impact on cancer risk, the variations analysed in this study are numerous and common in the population,” said Emily Farthing, senior research information manager at British charity Cancer Research UK. (IANS)